Anatomical phenotyping in a mouse model of fragile X syndrome with magnetic resonance imaging
Anatomical phenotyping in a mouse model of fragile X syndrome with magnetic resonance imaging
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DOI：
10.1016/j.neuroimage.2010.03.038
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发表时间：
2010-11-15
期刊：
影响因子：
5.7
通讯作者：
Henkelman, R. Mark
中科院分区：
文献类型：
--
作者：
Ellegood, Jacob;Pacey, Laura K.;Henkelman, R. Mark
脆性X综合征（FXS）是遗传性精神障碍最常见的单基因原因，认知缺陷的范围可以从简单的学习障碍到精神发育迟滞。人类FXS是由脆性X智力迟钝蛋白（FMRP）的丢失引起的。脆性X基因敲除（FX KO）小鼠也显示出FMRP的缺失，以及人类FXS的许多身体和行为特征。这项工作的目的是表征FX KO和相应的野生型小鼠之间的解剖学变化。在小脑深核内的两个区域，即间位核和顶核，这可能是由于神经元的损失，如组织学分析所示的显着的体积减少。这些核和以前建立的FXS的行为和物理特性之间的众所周知的联系进行了讨论。FMRP的丢失对这两个核有显著影响，未来的FXS研究应该评估这些关键核改变的生化、生理和行为后果。(c)2010年爱思唯尔公司All rights reserved.
Fragile X Syndrome (FXS) is the most common single gene cause of inherited mental impairment, and cognitive deficits can range from simple learning disabilities to mental retardation. Human FXS is caused by a loss of the Fragile X Mental Retardation Protein (FMRP). The fragile X knockout (FX KO) mouse also shows a loss of FMRP, as well as many of the physical and behavioural characteristics of human FXS. This work aims to characterize the anatomical changes between the FX KO and a corresponding wild type mouse. Significant volume decreases were found in two regions within the deep cerebellar nuclei, namely the nucleus interpositus and the fastigial nucleus, which may be caused by a loss of neurons as indicated by histological analysis. Well-known links between these nuclei and previously established behavioural and physical characteristics of FXS are discussed. The loss of FMRP has a significant effect on these two nuclei, and future studies of FXS should evaluate the biochemical, physiological, and behavioral consequences of alterations in these key nuclei. (c) 2010 Elsevier Inc. All rights reserved.